Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3277226
Disease: Restrictive ventilatory defect
Restrictive ventilatory defect
phenotype Finding 61 8 0.100 None 0
CUI: C0003862
Disease: Arthralgia
Arthralgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 0
CUI: C4048270
Disease: Decreased antibody level in blood
Decreased antibody level in blood
phenotype Finding 75 5 0.100 None 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 139 9 0.100 None 0
Pathological accumulation of air in tissues
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 69 6 0.100 None 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.100 None 0
Immunoglobulin Deficiency, Late-Onset
disease Immune System Diseases Disease or Syndrome 11 0.300 None 0
CUI: C0009763
Disease: Conjunctivitis
Conjunctivitis
disease Eye Diseases Disease or Syndrome 82 1 0.100 None 0
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency
disease Immune System Diseases Disease or Syndrome 207 85 0.700 limited 1.000 46 4 1986 2019
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
group Immune System Diseases Disease or Syndrome 1758 428 0.100 None 1.000 13 2 1986 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 1986 2020
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.020 None 1.000 2 1986 2020
CUI: C2936664
Disease: Acquired Hypogammaglobulinemia
Acquired Hypogammaglobulinemia
disease Immune System Diseases Disease or Syndrome 89 4 0.400 None 1.000 19 2 1999 2014
CUI: C0086438
Disease: Hypogammaglobulinemia
Hypogammaglobulinemia
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 76 2 0.050 None 1.000 5 2 1999 2019
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.140 None 1.000 4 1999 2012
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections
group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 1999 1999
CUI: C0221026
Disease: X-linked agammaglobulinemia
X-linked agammaglobulinemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 68 69 0.010 None 1.000 1 1999 1999
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.280 None 1.000 10 2 2001 2019
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 1740 865 0.450 None 1.000 7 2 2004 2019
IMMUNODEFICIENCY, COMMON VARIABLE, 2
disease Disease or Syndrome 1 9 0.600 None 1.000 20 9 2005 2017
Immunoglobulin A deficiency (disorder)
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 72 25 0.070 None 1.000 7 2005 2009
CUI: C1836032
Disease: Immunoglobulin a deficiency 2
Immunoglobulin a deficiency 2
disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 3 0.700 limited 1.000 3 3 2005 2017
CUI: C0039103
Disease: Synovitis
Synovitis
disease Musculoskeletal Diseases Disease or Syndrome 197 0.010 None 1.000 1 2005 2005
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Hemic and Lymphatic Diseases Sign or Symptom 127 21 0.010 None 1.000 1 1 2006 2006
CUI: C0021368
Disease: Inflammation
Inflammation
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 467 0.010 None 1.000 1 2006 2006